| Autor: |
Uziel G, Bottacchi E, Moschen G, Giovanardi-Rossi P, Cardace G, Di Donato S |
| Jazyk: |
angličtina |
| Zdroj: |
Italian journal of neurological sciences [Ital J Neurol Sci] 1982 Dec; Vol. 3 (4), pp. 317-21. |
| DOI: |
10.1007/BF02043580 |
| Abstrakt: |
Pyruvate dehydrogenase complex (PDHC) activity was measured in cultured fibroblasts from 12 patients with Friedreich's ataxia (FA), and in 1 patient with lactic acidosis and ataxia. The activities obtained after extraction of PDHC by different methods were compared. Triton-X-100 extraction yielded enzyme activities 5 to 10 times greater than those obtained with the older methods. With this sensitive technique, PDHC activity was markedly deficient in fibroblasts from the patient with lactic acidosis and ataxia but it was normal in the fibroblasts from FA patients. Mg++ activation of the PDHC in FA fibroblasts was normal. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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